PHACE(S) syndromeGene: DUSP5
Pramanik et al. (2009, PMID:) identified an apparently somatic ser147-to-pro (S147P) mutation in the DUSP5 gene in 1 of 3 infantile hemangioma (602089) samples.
Created: 10 Apr 2017, 2:56 p.m.
Promoted to Version 1: April 12th 2017. At the time of curation (April 2017), no genetic causes of PHACE(s) were reported, and therefore there are no green genes on the V1.0 panel. Based on clinical advice, VHL is not included on the panel.
DUSP5 was created by rfoulger
DUSP5 was added to PHACE(S) syndromepanel. Sources: Other